Canonical Allele Identifier: CA412891045

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760011G>C (hg19) ; chrX:g.48902734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902734G>C , CM000685.2:g.48902734G>C	GRCh38
NC_000023.10:g.48760011G>C , CM000685.1:g.48760011G>C	GRCh37
NC_000023.9:g.48644955G>C	NCBI36
NG_015967.1:g.9817G>C
NG_015968.2:g.416C>G
NG_034300.1:g.14225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.580G>C	ENSP00000218224.4:p.Val194Leu
ENST00000376563.6:c.580G>C	ENSP00000365747.1:p.Val194Leu
ENST00000396763.6:c.580G>C	ENSP00000379985.1:p.Val194Leu
ENST00000443648.6:c.580G>C	ENSP00000414861.2:p.Val194Leu
ENST00000456306.2:c.-30G>C	ENSP00000393013.2:n.-30G>C
ENST00000472742.6:c.447G>C	ENSP00000509191.1:p.Gln149His
ENST00000473764.6:n.1409G>C
ENST00000474671.6:n.1603G>C
ENST00000477997.6:n.1529G>C
ENST00000486150.6:n.1703G>C
ENST00000692023.1:c.*1001G>C	ENSP00000509927.1:n.*1001G>C
ENST00000447146.7:c.580G>C MANE Select	ENSP00000391759.2:p.Val194Leu
ENST00000651767.1:c.580G>C	ENSP00000498362.1:p.Val194Leu
ENST00000218224.8:c.580G>C	ENSP00000218224.4:p.Val194Leu
ENST00000247140.8:c.295G>C	ENSP00000247140.4:p.Val99Leu
ENST00000376563.5:c.580G>C	ENSP00000365747.1:p.Val194Leu
ENST00000376566.8:c.295G>C	ENSP00000365750.4:p.Val99Leu
ENST00000396763.5:c.580G>C	ENSP00000379985.1:p.Val194Leu
ENST00000443648.5:c.580G>C	ENSP00000414861.1:p.Val194Leu
ENST00000447146.6:c.580G>C	ENSP00000391759.2:p.Val194Leu
ENST00000456306.1:c.261G>C
ENST00000463529.4:n.794G>C
ENST00000465859.2:n.594G>C
ENST00000470059.5:n.794G>C
ENST00000470062.5:n.552G>C
ENST00000472742.5:n.616G>C
ENST00000473764.5:n.1152G>C
ENST00000474671.5:n.640G>C
ENST00000477997.5:n.661G>C
NM_001032381.1:c.580G>C	NP_001027553.1:p.Val194Leu
NM_001032382.1:c.580G>C	NP_001027554.1:p.Val194Leu
NM_001032383.1:c.580G>C	NP_001027555.1:p.Val194Leu
NM_001032384.1:c.580G>C	NP_001027556.1:p.Val194Leu
NM_001167989.1:c.578-1G>C	NP_001161461.1:n.578-1G>C
NM_001167990.1:c.556G>C	NP_001161462.1:p.Val186Leu
NM_001167992.1:c.280G>C	NP_001161464.1:p.Val94Leu
NM_005710.2:c.580G>C	NP_005701.1:p.Val194Leu
NM_144495.2:c.295G>C	NP_652766.1:p.Val99Leu
XM_005272571.3:c.578-1G>C	XP_005272628.1:n.578-1G>C
XM_005272572.3:c.295G>C	XP_005272629.1:p.Val99Leu
XM_011543884.1:c.580G>C	XP_011542186.1:p.Val194Leu
XM_005272572.4:c.295G>C	XP_005272629.1:p.Val99Leu
XM_011543884.2:c.580G>C	XP_011542186.1:p.Val194Leu
XM_017029207.1:c.578-1G>C	XP_016884696.1:n.578-1G>C
NM_001032381.2:c.580G>C	NP_001027553.1:p.Val194Leu
NM_001032382.2:c.580G>C MANE Select	NP_001027554.1:p.Val194Leu
NM_001032383.2:c.580G>C	NP_001027555.1:p.Val194Leu
NM_001167989.2:c.578-1G>C	NP_001161461.1:n.578-1G>C
NM_001167990.2:c.556G>C	NP_001161462.1:p.Val186Leu
NM_144495.3:c.295G>C	NP_652766.1:p.Val99Leu